檢索結果 - Katja Lohmann

Refine Results
  1. 1
    Next Generation Sequencing and the Future of Genetic Diagnosis

    Next Generation Sequencing and the Future of Genetic Diagnosis 由 Katja Lohmann, Christine Klein

    出版 2014
    獲取全文
    Revisão
    加到收藏夾
    Saved in:
  2. 2
    Fixing the broken system of genetic locus symbols

    Fixing the broken system of genetic locus symbols 由 Connie Marras, Katja Lohmann, Anthony E. Lang, Christine Klein

    出版 2012
    獲取全文
    Revisão
    加到收藏夾
    Saved in:
  3. 3
    <scp>MDSGene</scp>: Extending the List of Isolated Dystonia Genes by <scp><i>VPS16</i></scp>, <scp><i>EIF2AK2</i></scp>, and <scp><i>AOPEP</i></scp>

    <scp>MDSGene</scp>: Extending the List of Isolated Dystonia Genes by <scp><i>VPS16</i></scp>, <scp><i>EIF2AK2</i></scp>, and <scp><i>AOPEP</i></scp> 由 Mirja Thomsen, Lara M. Lange, Christine Klein, Katja Lohmann

    出版 2023
    獲取全文 獲取全文
    Carta
    加到收藏夾
    Saved in:
  4. 4
    Genetics and Pathogenesis of Dystonia

    Genetics and Pathogenesis of Dystonia 由 Mirja Thomsen, Lara M. Lange, Michael Zech, Katja Lohmann

    出版 2023
    獲取全文
    Revisão
    加到收藏夾
    Saved in:
  5. 5
    PINK1-Interacting Proteins: Proteomic Analysis of Overexpressed PINK1

    PINK1-Interacting Proteins: Proteomic Analysis of Overexpressed PINK1 由 Aleksandar Raković, Anne Grünewald, Lisa Voges, Sarah Hofmann, Slobodanka Orolicki, Katja Lohmann, Christine Klein

    出版 2011
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  6. 6
    Mutations in PINK1 and Parkin Impair Ubiquitination of Mitofusins in Human Fibroblasts

    Mutations in PINK1 and Parkin Impair Ubiquitination of Mitofusins in Human Fibroblasts 由 Aleksandar Raković, Anne Grünewald, Jan Kottwitz, Norbert Brüggemann, Peter P. Pramstaller, Katja Lohmann, Christine Klein

    出版 2011
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  7. 7
    Novel <i>GNB1</i> missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disability

    Novel <i>GNB1</i> missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disability 由 Sofia Steinrücke, Katja Lohmann, Aloysius Domingo, Arndt Rolfs, Tobias Bäumer, Juliane Spiegler, Corinna Hartmann, Alexander Münchau

    出版 2016
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  8. 8
    Exome sequencing identifies a de novo <i><scp>SCN</scp>2<scp>A</scp></i> mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities

    Exome sequencing identifies a de novo <i><scp>SCN</scp>2<scp>A</scp></i> mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hy... 由 Anna‐Lena Baasch, Irina Hüning, Christian Gilissen, Joerg Klepper, Joris A. Veltman, Gabriele Gillessen‐Kaesbach, Alexander Hoischen, Katja Lohmann

    出版 2014
    獲取全文 獲取全文
    Revisão
    加到收藏夾
    Saved in:
  9. 9
    Novel pathogenic variants and multiple molecular diagnoses in neurodevelopmental disorders

    Novel pathogenic variants and multiple molecular diagnoses in neurodevelopmental disorders 由 Joanne Trinh, Krishna Kumar Kandaswamy, Martin Werber, Maximilian E. R. Weiss, Gabriela Oprea, Shivendra Kishore, Katja Lohmann, Arndt Rolfs

    出版 2019
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  10. 10
    Functional movement disorders in dopa-responsive dystonia

    Functional movement disorders in dopa-responsive dystonia 由 Feline Hamami, Jannik Prasuhn, Leon-Claas van Well, Katja Lohmann, Christine Klein, Norbert Brüggemann, Tobias Bäumer, Alexander Münchau, Anne Weißbach

    出版 2025
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  11. 11
    Blastic plasmacytoid dendritic cell neoplasm and cerebral toxoplasmosis: a case report

    Blastic plasmacytoid dendritic cell neoplasm and cerebral toxoplasmosis: a case report 由 Florescu, Anna Maria, Sørensen, Anne Louise Tølbøll, Nielsen, Henrik Vedel, Tolnai, Daniel, Sjö, Lene Dissing, Larsen, Katja Lohmann, Al-Karagholi, Mohammad Al-Mahdi

    出版 2022
    獲取全文 獲取全文 獲取全文
    Text
    加到收藏夾
    Saved in:
  12. 12
    <i>Shaking Up Ataxia</i>: <scp><i>FGF14</i></scp> and <scp><i>RFC1</i></scp> Repeat Expansions in Affected and Unaffected Members of a Chilean Family

    <i>Shaking Up Ataxia</i>: <scp><i>FGF14</i></scp> and <scp><i>RFC1</i></scp> Repeat Expansions in Affected and Unaffected Members of a Chilean Family 由 Paula Saffie Awad, Katja Lohmann, Yasmin Hirmas, Frauke Hinrichs, Mirja Thomsen, Marcelo Kauffman, Theresa Lüth, Joanne Trinh, Ana Westenberger, Pedro Chaná‐Cuevas, Christine Klein

    出版 2023
    獲取全文 獲取全文
    Carta
    加到收藏夾
    Saved in:
  13. 13
    Updated MDSGene review on the clinical and genetic spectrum of LRRK2 variants in Parkinson´s disease

    Updated MDSGene review on the clinical and genetic spectrum of LRRK2 variants in Parkinson´s disease 由 Cleusa Adriane Menegassi Bianchi Krüger, Shen‐Yang Lim, Alissa Buhrmann, Fenja L. Fahrig, Carolin Gabbert, Natascha Bahr, Harutyun Madoev, Connie Marras, Christine Klein, Katja Lohmann

    出版 2025
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  14. 14
    Etiology of musician’s dystonia

    Etiology of musician’s dystonia 由 Alexander Schmidt, H.‐C. Jabusch, Eckart Altenmüller, J. Hagenah, Norbert Brüggemann, Katja Lohmann, Leonie Enders, P. L. Kramer, Rachel Saunders‐Pullman, Susan Bressman, Alexander Münchau, Christine Klein

    出版 2009
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  15. 15
    <scp><i>RFC1</i></scp> and <scp><i>FGF14</i></scp> Repeat Expansions in Serbian Patients with Cerebellar Ataxia

    <scp><i>RFC1</i></scp> and <scp><i>FGF14</i></scp> Repeat Expansions in Serbian Patients with Cerebellar Ataxia 由 Andona Milovanović, Nataša Dragaševic‐Mišković, Mirja Thomsen, Max Borsche, Frauke Hinrichs, Ana Westenberger, Christine Klein, Norbert Brüggemann, Marija Branković, Ana Marjanović, Marina Svetel, Vladimir Kostić, Katja Lohmann

    出版 2024
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  16. 16
    Heterozygous carriers of a <i>Parkin</i> or <i>PINK1</i> mutation share a common functional endophenotype

    Heterozygous carriers of a <i>Parkin</i> or <i>PINK1</i> mutation share a common functional endophenotype 由 Bart F.L. van Nuenen, Manuel Weiß, Bastiaan R. Bloem, Kathrin Reetz, Thilo van Eimeren, Katja Lohmann, J. Hagenah, Peter P. Pramstaller, Ferdinand Binkofski, Christine Klein, Hartwig R. Siebner

    出版 2008
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  17. 17
    Mutant Parkin Impairs Mitochondrial Function and Morphology in Human Fibroblasts

    Mutant Parkin Impairs Mitochondrial Function and Morphology in Human Fibroblasts 由 Anne Grünewald, Lisa Voges, Aleksandar Raković, Meike Kasten, Himesha Vandebona, Claudia Hemmelmann, Katja Lohmann, Slobodanka Orolicki, Alfredo Ramı́rez, Anthony H.V. Schapira, Peter P. Pramstaller, Carolyn M. Sue, Christine Klein

    出版 2010
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  18. 18
    Multi‐omic landscaping of human midbrains identifies disease‐relevant molecular targets and pathways in advanced‐stage Parkinson's disease

    Multi‐omic landscaping of human midbrains identifies disease‐relevant molecular targets and pathways in advanced‐stage Parkinson's disease 由 Lucas Caldi Gomes, Ana Galhoz, Gaurav Jain, Anna‐Elisa Roser, Fabian Maass, Eleonora Carboni, Elisabeth Barski, Christof Lenz, Katja Lohmann, Christine Klein, Mathias Bähr, André Fischer, Michael P. Menden, Paul Lingor

    出版 2022
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  19. 19
    Genotype–Phenotype Relations in Primary Familial Brain Calcification: Systematic <scp>MDSGene</scp> Review

    Genotype–Phenotype Relations in Primary Familial Brain Calcification: Systematic <scp>MDSGene</scp> Review 由 Alexander Balck, Susen Schaake, Neele Kuhnke, Aloysius Domingo, Harutyun Madoev, Jason Margolesky, Valerija Dobričić, Daniel Alvarez‐Fischer, Björn‐Hergen Laabs, Meike Kasten, Wei Luo, Gaël Nicolas, Connie Marras, Katja Lohmann, Christine Klein, Ana Westenberger

    出版 2021
    獲取全文 獲取全文
    Revisão
    加到收藏夾
    Saved in:
  20. 20
    <scp><i>GBA</i></scp> Variants in Parkinson's Disease: Clinical, Metabolomic, and Multimodal Neuroimaging Phenotypes

    <scp><i>GBA</i></scp> Variants in Parkinson's Disease: Clinical, Metabolomic, and Multimodal Neuroimaging Phenotypes 由 Andrea Greuel, Jean‐Pierre Trezzi, Enrico Glaab, Marina C. Ruppert, Franziska Maier, Christian Jäger, Zdenka Hodak, Katja Lohmann, Yilong Ma, David Eidelberg, Lars Timmermann, Karsten Hiller, Marc Tittgemeyer, Alexander Drzezga, Nico J. Diederich, Carsten Eggers

    出版 2020
    獲取全文
    Artigo
    加到收藏夾
    Saved in:

檢索工具: